Alveolar capillary dysplasia with misalignment of the pulmonary veins: clinical, histological, and genetic aspects

PVRI Member Authors: Robbert Rottier, Dick Tibboel

Abstract

Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) is a rare and lethal disorder mainly involving the vascular development of the lungs. Since its first description, significant achievements in research have led to a better understanding of the underlying molecular mechanism of ACD/MPV and genetic studies have identified associations with genomic alterations in the locus of the transcription factor FOXF1. This in turn has increased the awareness among clinicians resulting in over 200 cases reported so far, including genotyping of patients in most recent reports. Collectively, this promoted a better stratification of the patient group, leading to new perspectives in research on the pathogenesis. Here, we provide an overview of the clinical aspects of ACD/MPV, including guidance for clinicians, and review the ongoing research into the complex molecular mechanism causing this severe lung disorder.

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Topics

Bronchopulmonary Dysplasia
Pediatric
Pulmonary Hypertension

Authors

Evelien Slot, Gabriëla Edel, Ernest Cutz, Arno van Heijst, Martin Post, Marco Schnater, René Wijnen, Annelies de Klein

Published in:

Pulmonary Circulation Vol 8: No 3 cover image

September 2018

Pulmonary Circulation Vol 8: No 3

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